gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09092223 (MID)
Genomes Max Group AF
0.07352637 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81741409A>G , CM000670.2:g.81741409A>G | GRCh38 |
| NC_000008.10:g.82653644A>G , CM000670.1:g.82653644A>G | GRCh37 |
| NC_000008.9:g.82816199A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297265.5:c.190+8593A>G MANE Select | ENSP00000297265.4:n.190+8593A>G | |
| ENST00000297265.4:c.190+8593A>G | ENSP00000297265.4:n.190+8593A>G | |
| NM_152284.3:c.190+8593A>G | NP_689497.1:n.190+8593A>G | |
| NM_152284.4:c.190+8593A>G MANE Select | NP_689497.1:n.190+8593A>G |